Table 2.
Sequence and location of primers used for quantitative polymerase chain reaction (qPCR) validation of the copy-number variant (CNV) on Chromosome 19 in members of family 23538
| Gene name | Primer sequence (5′–3′) | Chromosome:location |
|---|---|---|
| DPP9 | Forward: ATGTGGCCCTTAGCCTCTC | Chr 19:4,689,228–4,689,312 |
| Reverse: CTGACTCGTGCCCTGGACTA | ||
| LONP1 | Forward: TTCCAGCACGGGATTTGTTG | Chr 19:5,707,215–5,707,325 |
| Reverse: GAGGTTGGGGGAAAATGCG | ||
| SAFB2 | Forward: TTACCGGAATCAACCACCTAATG | Chr 19:5,610,429–5,610,541 |
| Reverse: TGTGCTTTTCACCATCCCATAG | ||
| ARRDC5 | Forward: AGTGCTGCCCGAGGATAGAA | Chr 19:4,902,710–4,902,811 |
| Reverse: TCCACCTTCACTATGGGGTC | ||
| SDHA | Forward: CAATATACACGTCTTTCCCCTTC | Chr 5:223,240–223,326 |
| Reverse: CTCAGATACGAAATGAAAAAGGCAC | ||
| DYRK1A | Forward: CTGGGCCTTGTTTTTACCCTC | Chr 21:38,794,783–38,794,888 |
| Reverse: TGAACCTGTGCCTCATCAAG | ||
| HPRT1 | Forward: TACGGGCCAACCTGACAA | Chr X:133,604,318–133,604,403 |
| Reverse: GGTTTGTGCTGTCTTTCAGTC |